Abstract

The Toll-like receptors (TLRs) are germline-encoded receptors that play an essential role in initiating the immune response against pathogens. In this study, we assess the association of TLR polymorphism with autoimmune thyroid disease (AITD) in Korean children. We investigated three polymorphisms in the TLR10 gene (rs4129009, rs11096956, and rs10004195) in 85 Korean AITD patients (Graves' disease, [GD]=50, Hashimoto's disease [HD]=35; thyroid-associated ophthalmopathy [TAO]=23, non-TAO=62; male=16, female=69; mean age=13.4±3.1 years) and 279 healthy control subjects. In patients with AITD, the frequencies of the TLR10 rs4129009 A allele (odds raio [OR]=3.9, corrected p=0.04) and rs10004195 T allele (OR=2.8, corrected p=0.02) were higher than in the healthy controls, whereas the TLR10 rs4129009 GG genotype (OR=0.3, corrected p=0.04) and rs10004195 AA genotype (OR=0.4, corrected p=0.02) showed lower frequencies. The TLR10 rs11096956 did not show any significant association. These significant associations were also found in the non-thyroid-associated ophthalmopathy (TAO) group, but not in the TAO group. The haplotype (AGT) frequency of TLR10 rs4129009, rs11096956, and rs10004195 was higher in the AITD group than in healthy controls (OR=2.1, corrected p=0.03). Our results suggest that TLR10 polymorphisms may contribute to the pathogenesis of AITD.